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Links from MedGen

Items: 1 to 100 of 708

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
LOC129930352, P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
(G456fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 8
GPathogenic
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GUncertain significance
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
(E247*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 8
GPathogenic
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
LOC129930352, P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type 8
GLikely pathogenic
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
(R690P)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(3 prime UTR variant +1 more)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
(Y343H)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type 8
GUncertain significance
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
(Y250fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 8
GPathogenic
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Deletion
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type 8
GPathogenic
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
(E364*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 8
GPathogenic
P3H1
(H289fs)
Deletion
(frameshift variant)
Osteogenesis imperfecta type 8
GPathogenic
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type 8
GLikely pathogenic
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
(S726fs)
Microsatellite
(3 prime UTR variant +1 more)
Osteogenesis imperfecta type 8
GLikely pathogenic
P3H1
(E351*)
Single nucleotide variant
(nonsense)
Osteogenesis imperfecta type 8
GPathogenic
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Deletion
(intron variant)
Osteogenesis imperfecta type 8
GBenign
P3H1
Deletion
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(splice acceptor variant)
Osteogenesis imperfecta type 8
GLikely pathogenic
P3H1
Duplication
(intron variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
Single nucleotide variant
(synonymous variant)
Osteogenesis imperfecta type 8
GLikely benign
P3H1
(A689V)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta type 8
GLikely benign
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